MaveDB

An open-source platform to distribute and interpret data from multiplexed assays of variant effect. Table of Multiplexed Assay of Variant Effect (MAVE) studies. MaveDB - A repository for MAVE assay datasets. To cite this document, please use the citation details for MaveDB. MaveDB is a public repository for datasets from Multiplexed Assays of Variant Effect (MAVEs), such as those generated by deep mutational scanning (DMS) or massively parallel reporter assay (MPRA) experiments. Welcome to our table of Multiplexed Assay of Variant Effect (MAVE) studies. To contribute a study or amend/expand an existing entry, please use the GitHub issue tracker or create a pull request

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MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect
PMID: 31679514

metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:28.138507

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• MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect PubMed citations: 25.

  25 articles citing: MaveDB: an open-source platform to distribute and interpret data from multiplexed assays of variant effect

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  A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. PMID:35220969

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  ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. PMID:35039090

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  Embeddings from protein language models predict conservation and variant effects. PMID:34967936

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  Neural networks to learn protein sequence-function relationships from deep mutational scanning data. PMID:34815338

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  Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN. PMID:34793697

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  Disease variant prediction with deep generative models of evolutionary data. PMID:34707284

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  Measurements drive progress in directed evolution for precise engineering of biological systems. PMID:34611570

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  High throughput and quantitative enzymology in the genomic era. PMID:34592682

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  Improved pathogenicity prediction for rare human missense variants. PMID:34551312

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  Decoding disease: from genomes to networks to phenotypes. PMID:34341555

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  Linking genome variants to disease: scalable approaches to test the functional impact of human mutations. PMID:34338757

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  Exploring amino acid functions in a deep mutational landscape. PMID:34292650

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  Shifting landscapes of human MTHFR missense-variant effects. PMID:34214447

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  Bayesian optimization with evolutionary and structure-based regularization for directed protein evolution. PMID:34210336

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  dms-view: Interactive visualization tool for deep mutational scanning data. PMID:34189395

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  Modeling transcriptional regulation of model species with deep learning. PMID:33888512

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  MaveRegistry: a collaboration platform for multiplexed assays of variant effect. PMID:33774657

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  DeMaSk: a deep mutational scanning substitution matrix and its use for variant impact prediction. PMID:33325500

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  Prioritizing genes for systematic variant effect mapping. PMID:33300982

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  DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies. PMID:32799905

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  Yeast-based assays for the functional characterization of cancer-associated variants of human DNA repair genes. PMID:32656256

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  Parallel Chemoselective Profiling for Mapping Protein Structure. PMID:32649906

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  MaveQuest: a web resource for planning experimental tests of human variant effects. PMID:32251504

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  Variant effect predictions capture some aspects of deep mutational scanning experiments. PMID:32183714

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  Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation. PMID:31862013

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personalised medicine

metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:28.138507

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genetic variation

metasource: bio.tools
version: extracted_at: 2022-11-04T11:29:28.138507

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sequencing

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version: extracted_at: 2022-11-04T11:29:28.138507

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mapping

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version: extracted_at: 2022-11-04T11:29:28.138507

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transcription factors and regulatory sites

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personalised medicine genetic variation sequencing mapping transcription factors and regulatory sites